Canonical Allele Identifier: CA2741536222

Gene: CAVIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42404648G>C , CM000679.2:g.42404648G>C	GRCh38
NC_000017.10:g.40556666G>C , CM000679.1:g.40556666G>C	GRCh37
NC_000017.9:g.37810192G>C	NCBI36
NG_015845.1:g.23673C>G
NG_015845.2:g.23673C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357037.6:c.*39C>G MANE Select	ENSP00000349541.4:n.*39C>G
ENST00000357037.5:c.*39C>G	ENSP00000349541.4:n.*39C>G
NM_012232.5:c.*39C>G	NP_036364.2:n.*39C>G
NM_012232.6:c.*39C>G MANE Select	NP_036364.2:n.*39C>G